{"id":"https://openalex.org/W7221364950","doi":"https://doi.org/10.3390/dj14100659","title":"Clinical and Genetic Characterization of a Family with Tooth Agenesis Carrying a Novel LEF1 Variant","display_name":"Clinical and Genetic Characterization of a Family with Tooth Agenesis Carrying a Novel LEF1 Variant","publication_year":2026,"publication_date":"2026-10-10","ids":{"openalex":"https://openalex.org/W7221364950","doi":"https://doi.org/10.3390/dj14100659","pmid":"https://pubmed.ncbi.nlm.nih.gov/42930425","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13703567"},"language":"en","primary_location":{"id":"doi:10.3390/dj14100659","doi":"https://doi.org/10.3390/dj14100659","is_oa":true,"landing_page_url":"https://doi.org/10.3390/dj14100659","pdf_url":null,"source":{"id":"https://openalex.org/S2764449849","display_name":"Dentistry Journal","issn_l":"2304-6767","issn":["2304-6767"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dentistry Journal","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.3390/dj14100659","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5158241110","display_name":"Ludovica Fortuna","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Ludovica Fortuna","raw_affiliation_strings":["Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210153126"]},{"raw_affiliation_string":"Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063200022","display_name":"Roberto Bertozzi","orcid":"https://orcid.org/0009-0004-5999-3796","observed_orcids":["https://orcid.org/0009-0004-5999-3796"]},"institutions":[{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Roberto Bertozzi","raw_affiliation_strings":["Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210153126"]},{"raw_affiliation_string":"Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034578291","display_name":"Valentina Trevisan","orcid":"https://orcid.org/0000-0002-9566-4971","observed_orcids":["https://orcid.org/0000-0002-9566-4971"]},"institutions":[{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Valentina Trevisan","raw_affiliation_strings":["Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-9566-4971","affiliations":[{"raw_affiliation_string":"Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5087118071","display_name":"Chiara Leoni","orcid":"https://orcid.org/0000-0002-4089-637X","observed_orcids":["https://orcid.org/0000-0002-4089-637X"]},"institutions":[{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Chiara Leoni","raw_affiliation_strings":["Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-4089-637X","affiliations":[{"raw_affiliation_string":"Center for Rare Diseases, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5079985047","display_name":"Angelo Minucci","orcid":"https://orcid.org/0000-0002-0833-4334","observed_orcids":["https://orcid.org/0000-0002-0833-4334"]},"institutions":[{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Angelo Minucci","raw_affiliation_strings":["Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-0833-4334","affiliations":[{"raw_affiliation_string":"Departmental Unit of Molecular and Genomic Diagnostics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210153126"]},{"raw_affiliation_string":"Genomics Core Facility, Gemelli Science and Technology Park (G-STeP), Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020769869","display_name":"Maurizio Genuardi","orcid":"https://orcid.org/0000-0002-7410-8351","observed_orcids":["https://orcid.org/0000-0002-7410-8351"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]},{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Maurizio Genuardi","raw_affiliation_strings":["Complex Operational Unit of Medical Genetics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","Department of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of the Sacred Heart, 00168 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-7410-8351","affiliations":[{"raw_affiliation_string":"Complex Operational Unit of Medical Genetics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210153126"]},{"raw_affiliation_string":"Department of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of the Sacred Heart, 00168 Rome, Italy","institution_ids":["https://openalex.org/I103320735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083193969","display_name":"Gaetano Isola","orcid":"https://orcid.org/0000-0003-4267-6992","observed_orcids":["https://orcid.org/0000-0003-4267-6992"]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Gaetano Isola","raw_affiliation_strings":["International Research Center on Periodontal and Systemic Health \u201cPerioHealth\u201d, University of Catania, 95123 Catania, Italy","Unit of Periodontology, Department of General Surgery and Surgical-Medical Specialties, School of Dentistry, University of Catania, 95123 Catania, Italy"],"raw_orcid":"https://orcid.org/0000-0003-4267-6992","affiliations":[{"raw_affiliation_string":"International Research Center on Periodontal and Systemic Health \u201cPerioHealth\u201d, University of Catania, 95123 Catania, Italy","institution_ids":["https://openalex.org/I39063666"]},{"raw_affiliation_string":"Unit of Periodontology, Department of General Surgery and Surgical-Medical Specialties, School of Dentistry, University of Catania, 95123 Catania, Italy","institution_ids":["https://openalex.org/I39063666"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5076880903","display_name":"Cristina Grippaudo","orcid":"https://orcid.org/0000-0002-9499-0556","observed_orcids":["https://orcid.org/0000-0002-9499-0556"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]},{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":true,"raw_author_name":"Cristina Grippaudo","raw_affiliation_strings":["Dipartimento Universitario Testa Collo ed Organi di Senso, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy","UOC Clinica Odontoiatrica, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-9499-0556","affiliations":[{"raw_affiliation_string":"Dipartimento Universitario Testa Collo ed Organi di Senso, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy","institution_ids":["https://openalex.org/I103320735"]},{"raw_affiliation_string":"UOC Clinica Odontoiatrica, Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210153126"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5050835352","display_name":"Elisabetta Tabolacci","orcid":"https://orcid.org/0000-0002-4707-2242","observed_orcids":["https://orcid.org/0000-0002-4707-2242"]},"institutions":[{"id":"https://openalex.org/I103320735","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07","country_code":"IT","type":"education","lineage":["https://openalex.org/I103320735"]},{"id":"https://openalex.org/I2802557943","display_name":"Agostino Gemelli University Polyclinic","ror":"https://ror.org/00rg70c39","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2802557943"]},{"id":"https://openalex.org/I4210153126","display_name":"Istituti di Ricovero e Cura a Carattere Scientifico","ror":"https://ror.org/04tfzc498","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Elisabetta Tabolacci","raw_affiliation_strings":["Complex Operational Unit of Medical Genetics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","Department of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of the Sacred Heart, 00168 Rome, Italy"],"raw_orcid":"https://orcid.org/0000-0002-4707-2242","affiliations":[{"raw_affiliation_string":"Complex Operational Unit of Medical Genetics, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy","institution_ids":["https://openalex.org/I2802557943","https://openalex.org/I4210153126"]},{"raw_affiliation_string":"Department of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of the Sacred Heart, 00168 Rome, Italy","institution_ids":["https://openalex.org/I103320735"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5076880903"],"corresponding_institution_ids":["https://openalex.org/I103320735","https://openalex.org/I2802557943","https://openalex.org/I4210153126"],"apc_list":{"value":2000,"currency":"CHF","value_usd":2413},"apc_paid":{"value":2000,"currency":"CHF","value_usd":2413},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.77765711,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"14","issue":"10","first_page":"659","last_page":"659"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":1.0,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11919","display_name":"dental development and anomalies","score":1.0,"subfield":{"id":"https://openalex.org/subfields/3500","display_name":"General Dentistry"},"field":{"id":"https://openalex.org/fields/35","display_name":"Dentistry"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12110","display_name":"Bone and Dental Protein Studies","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1303","display_name":"Biochemistry"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/tooth-agenesis","display_name":"tooth agenesis","score":0.9959999918937683},{"id":"https://openalex.org/keywords/lef1","display_name":"LEF1","score":0.9819999933242798},{"id":"https://openalex.org/keywords/novel-variants","display_name":"novel variants","score":0.7289999723434448},{"id":"https://openalex.org/keywords/non-syndromic-tooth-agenesis","display_name":"non-syndromic tooth agenesis","score":0.8889999985694885},{"id":"https://openalex.org/keywords/familial-tooth-agenesis","display_name":"familial tooth agenesis","score":0.8640000224113464},{"id":"https://openalex.org/keywords/wnt-signaling","display_name":"Wnt signaling","score":0.8550000190734863},{"id":"https://openalex.org/keywords/tooth-development","display_name":"tooth development","score":0.9950000047683716},{"id":"https://openalex.org/keywords/variant-pathogenicity","display_name":"variant pathogenicity","score":0.6919999718666077},{"id":"https://openalex.org/keywords/segregation-analysis","display_name":"segregation analysis","score":0.6600000262260437},{"id":"https://openalex.org/keywords/hereditary-dental-anomalies","display_name":"hereditary dental anomalies","score":0.8980000019073486}],"concepts":[{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.5805000066757202},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5713000297546387},{"id":"https://openalex.org/C76818968","wikidata":"https://www.wikidata.org/wiki/Q181940","display_name":"Sanger sequencing","level":4,"score":0.5641999840736389},{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5532000064849854},{"id":"https://openalex.org/C2777943302","wikidata":"https://www.wikidata.org/wiki/Q392604","display_name":"Agenesis","level":2,"score":0.4788999855518341},{"id":"https://openalex.org/C63363279","wikidata":"https://www.wikidata.org/wiki/Q5133848","display_name":"Clinical significance","level":2,"score":0.4505000114440918},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4503999948501587},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.4498000144958496},{"id":"https://openalex.org/C188126409","wikidata":"https://www.wikidata.org/wiki/Q641973","display_name":"Dentition","level":2,"score":0.3853999972343445},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3806000053882599},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.37700000405311584},{"id":"https://openalex.org/C2775905019","wikidata":"https://www.wikidata.org/wiki/Q192572","display_name":"In silico","level":3,"score":0.37529999017715454},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.3684999942779541},{"id":"https://openalex.org/C2779385247","wikidata":"https://www.wikidata.org/wiki/Q1549421","display_name":"Hypodontia","level":2,"score":0.36320000886917114},{"id":"https://openalex.org/C137620995","wikidata":"https://www.wikidata.org/wiki/Q155769","display_name":"Wnt signaling pathway","level":3,"score":0.35190001130104065},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.34779998660087585},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2976999878883362},{"id":"https://openalex.org/C64618202","wikidata":"https://www.wikidata.org/wiki/Q3733697","display_name":"Genetic heterogeneity","level":4,"score":0.2888000011444092},{"id":"https://openalex.org/C10590036","wikidata":"https://www.wikidata.org/wiki/Q417664","display_name":"Exome","level":5,"score":0.28859999775886536},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2872999906539917},{"id":"https://openalex.org/C189206191","wikidata":"https://www.wikidata.org/wiki/Q222046","display_name":"Genomics","level":4,"score":0.26350000500679016}],"mesh":[],"locations_count":5,"locations":[{"id":"doi:10.3390/dj14100659","doi":"https://doi.org/10.3390/dj14100659","is_oa":true,"landing_page_url":"https://doi.org/10.3390/dj14100659","pdf_url":null,"source":{"id":"https://openalex.org/S2764449849","display_name":"Dentistry Journal","issn_l":"2304-6767","issn":["2304-6767"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dentistry Journal","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13703567","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13703567/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13703567/pdf/dentistry-14-00659.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dent J (Basel)","raw_type":"Text"},{"id":"pmid:42930425","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42930425","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dentistry journal","raw_type":"Case Reports"},{"id":"pmh:oai:publicatt.unicatt.it:10807/350438","doi":null,"is_oa":true,"landing_page_url":"https://hdl.handle.net/10807/350438","pdf_url":"https://publicatt.unicatt.it/bitstream/10807/350438/1/dentistry-14-00659.pdf","source":{"id":"https://openalex.org/S4306400564","display_name":"PubliCatt (Universit\u00e0 Cattolica del Sacro Cuore)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:4ad61a6f0bab49f6b45022cced1bf5fb","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/4ad61a6f0bab49f6b45022cced1bf5fb","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Dentistry Journal, Vol 14, Iss 10, p 659 (2026)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.3390/dj14100659","doi":"https://doi.org/10.3390/dj14100659","is_oa":true,"landing_page_url":"https://doi.org/10.3390/dj14100659","pdf_url":null,"source":{"id":"https://openalex.org/S2764449849","display_name":"Dentistry Journal","issn_l":"2304-6767","issn":["2304-6767"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","jufo-1","ki-jl-1","norway-1","poland-20","russia-white-list-2"],"host_organization":"https://openalex.org/P4310310987","host_organization_name":"Multidisciplinary Digital Publishing Institute","host_organization_lineage":["https://openalex.org/P4310310987"],"host_organization_lineage_names":["Multidisciplinary Digital Publishing Institute"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Dentistry Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G1991320604","display_name":null,"funder_award_id":"5x1000","funder_id":"https://openalex.org/F4320323405","funder_display_name":"Universit\u00e0 Cattolica del Sacro Cuore"}],"funders":[{"id":"https://openalex.org/F4320323405","display_name":"Universit\u00e0 Cattolica del Sacro Cuore","ror":"https://ror.org/03h7r5v07"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7221364950.pdf","grobid_xml":"https://content.openalex.org/works/W7221364950.grobid-xml"},"referenced_works_count":18,"referenced_works":["https://openalex.org/W1994092372","https://openalex.org/W2016896803","https://openalex.org/W2027700399","https://openalex.org/W2028462776","https://openalex.org/W2051978340","https://openalex.org/W2055824128","https://openalex.org/W2080664820","https://openalex.org/W2290058248","https://openalex.org/W3004466013","https://openalex.org/W3043744717","https://openalex.org/W3181250262","https://openalex.org/W4280546381","https://openalex.org/W4306385361","https://openalex.org/W4313551331","https://openalex.org/W4383505877","https://openalex.org/W4410405560","https://openalex.org/W7095734969","https://openalex.org/W7143510668"],"related_works":["https://openalex.org/W2747241624","https://openalex.org/W4294991240","https://openalex.org/W2522000161","https://openalex.org/W4404787221","https://openalex.org/W2901035762","https://openalex.org/W4391142533","https://openalex.org/W7223334196","https://openalex.org/W7160411143","https://openalex.org/W4416449010","https://openalex.org/W7207672845"],"abstract_inverted_index":{"Background:":[0],"Tooth":[1],"agenesis":[2,71,186],"is":[3,148],"one":[4],"of":[5,11,26,38,99,105,161,191,222],"the":[6,12,36,54,74,95,100,106,130,135,141,145,157,189,219],"most":[7],"common":[8],"developmental":[9],"anomalies":[10],"human":[13],"dentition":[14],"and":[15,86,138,156,187,197,210],"may":[16],"occur":[17],"either":[18],"as":[19,24],"an":[20],"isolated":[21],"trait":[22],"or":[23],"part":[25],"a":[27,49,66,119,174,180],"syndromic":[28],"condition.":[29],"Advances":[30],"in":[31,41,53,65,87,134,140,163,179,204],"genomic":[32,193],"technologies":[33],"have":[34],"facilitated":[35],"identification":[37],"genes":[39],"involved":[40],"odontogenesis,":[42],"including":[43],"LEF1":[44,122,162,176],"(Lymphoid":[45],"Enhancer-Binding":[46],"Factor":[47],"1),":[48],"key":[50],"transcription":[51],"factor":[52],"WNT":[55],"signaling":[56],"pathway.":[57],"Methods:":[58],"Whole":[59],"exome":[60],"sequencing":[61],"(WES)":[62],"was":[63,81,113],"performed":[64,82],"proband":[67],"with":[68,129,182,195],"non-syndromic":[69,184],"tooth":[70,185],"to":[72,93,151,200,217],"investigate":[73],"underlying":[75],"genetic":[76,212],"cause.":[77],"Parental":[78],"segregation":[79,198],"analysis":[80],"through":[83],"Sanger":[84],"sequencing,":[85],"silico":[88],"prediction":[89],"tools":[90],"were":[91],"used":[92],"assess":[94],"potential":[96,167],"clinical":[97,196,220],"relevance":[98],"identified":[101,118,178],"variant.":[102,224],"A":[103],"review":[104],"current":[107],"literature":[108],"on":[109],"LEF1-associated":[110],"dental":[111,206],"phenotypes":[112],"also":[114],"conducted.":[115],"Results:":[116],"WES":[117],"novel":[120,175],"heterozygous":[121],"variant,":[123],"c.903G>C,":[124],"p.(Lys301Asn).":[125],"The":[126],"variant":[127,177,202],"co-segregated":[128],"phenotype,":[131],"being":[132],"detected":[133],"affected":[136],"father":[137],"absent":[139],"unaffected":[142],"mother.":[143],"Although":[144],"available":[146],"evidence":[147,213],"currently":[149],"insufficient":[150],"establish":[152,218],"pathogenicity,":[153],"computational":[154],"predictions":[155],"known":[158],"biological":[159],"role":[160],"odontogenesis":[164],"support":[165],"its":[166],"functional":[168,209],"significance.":[169],"Conclusions:":[170],"This":[171],"study":[172],"reports":[173],"family":[181],"familial":[183],"highlights":[188],"importance":[190],"integrating":[192],"findings":[194],"data":[199],"inform":[201],"interpretation":[203],"hereditary":[205],"anomalies.":[207],"Further":[208],"independent":[211],"will":[214],"be":[215],"required":[216],"significance":[221],"this":[223]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-10-11T00:00:00"}
